"3billion"[submitter] AND "KCNQ1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 67082	NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)	KCNQ1 (G186S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 53087	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1 (R231H +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 53092	NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	KCNQ1 (R243H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 200824	NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	KCNQ1 (W178L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3135	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +6 more	GPathogenic
Select item 52956	NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	KCNQ1 (R366Q +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 53000	NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)	KCNQ1 (S546L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic

ClinVar